Canonical Allele Identifier: CA2544437669

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479954_117479955insTCATTAAAAAA , CM000669.2:g.117479954_117479955insTCATTAAAAAA	GRCh38
NC_000007.13:g.117120008_117120009insTCATTAAAAAA , CM000669.1:g.117120008_117120009insTCATTAAAAAA	GRCh37
NC_000007.12:g.116907244_116907245insTCATTAAAAAA	NCBI36
NG_016465.4:g.19171_19172insTCATTAAAAAA , LRG_663:g.19171_19172insTCATTAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+260_-191+261insTCATTAAAAAA	ENSP00000417012.1:n.-191+260_-191+261insTCATTAAAAAA
ENST00000673785.1:c.-406+14123_-406+14124insTCATTAAAAAA	ENSP00000501235.1:n.-406+14123_-406+14124insTCATTAAAAAA
ENST00000446805.1:c.-191+260_-191+261insTCATTAAAAAA	ENSP00000417012.1:n.-191+260_-191+261insTCATTAAAAAA
ENST00000546407.1:n.166+4146_166+4147insTCATTAAAAAA
XM_011515751.1:c.143+609_143+610insTCATTAAAAAA	XP_011514053.1:n.143+609_143+610insTCATTAAAAAA
XM_011515752.1:c.143+609_143+610insTCATTAAAAAA	XP_011514054.1:n.143+609_143+610insTCATTAAAAAA
XM_011515753.1:c.-191+260_-191+261insTCATTAAAAAA	XP_011514055.1:n.-191+260_-191+261insTCATTAAAAAA
XM_011515754.1:c.-518-194_-518-193insTCATTAAAAAA	XP_011514056.1:n.-518-194_-518-193insTCATTAAAAAA